Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A...

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Autores principales: Topka, Sabine, Vijai, Joseph, Walsh, Michael F., Jacobs, Lauren, Maria, Ann, Villano, Danylo, Gaddam, Pragna, Wu, Gang, McGee, Rose B., Quinn, Emily, Inaba, Hiroto, Hartford, Christine, Pui, Ching-hon, Pappo, Alberto, Edmonson, Michael, Zhang, Michael Y., Stepensky, Polina, Steinherz, Peter, Schrader, Kasmintan, Lincoln, Anne, Bussel, James, Lipkin, Steve M., Goldgur, Yehuda, Harit, Mira, Stadler, Zsofia K., Mullighan, Charles, Weintraub, Michael, Shimamura, Akiko, Zhang, Jinghui, Downing, James R., Nichols, Kim E., Offit, Kenneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477877/
https://www.ncbi.nlm.nih.gov/pubmed/26102509
http://dx.doi.org/10.1371/journal.pgen.1005262

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